4.5 Article

Cross-sectional assessment of pain and physical function in skeletal dysplasia patients

Journal

CLINICAL GENETICS
Volume 84, Issue 3, Pages 237-243

Publisher

WILEY
DOI: 10.1111/cge.12045

Keywords

achondroplasia; mobility; pain; skeletal dysplasia

Funding

  1. Alan and Kathryn Greenberg Center for Skeletal Dysplasias in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University

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Short stature skeletal dysplasia (SD) patients have orthopedic and neurologic complications causing significant pain and physical disability. We conducted a large cross-sectional online survey in 361 people with short stature SD (>10years) to describe pain prevalence, characteristics, and the relationship between pain and function. Chronic pain prevalence per Brief Pain Inventory (BPI) was 70.3%. Women reported more pain than men (73% vs 63% p=0.04). Pain Severity Score (average of current, worst, least and average pain) averaged 3.3 +/- 2, while the Pain Interference Score (with daily activities) averaged 3.4 +/- 2.7 on a 10-point scale. Per Bleck scale, 20.5% had little or no functional capacity. Increasing age and decreased ambulation independently predicted chronic pain. Chronic pain is prevalent in short stature SD patients and associated with poor physical function. Further study is required to clarify the temporal relationship among pain, function and treatments.

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